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NM_144573.4(NEXN):c.865-5G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 20, 2020
Accession:
VCV000180108.4
Variation ID:
180108
Description:
single nucleotide variant
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NM_144573.4(NEXN):c.865-5G>A

Allele ID
172459
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 77929311 (GRCh38) GRCh38 UCSC
1: 78394996 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.78394996G>A
NC_000001.11:g.77929311G>A
NM_144573.4:c.865-5G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:77929310:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00009
Links
dbSNP: rs727505353
ClinGen: CA185831
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 11, 2018 RCV000869575.1
Likely benign 1 criteria provided, single submitter Oct 20, 2020 RCV001456331.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 29, 2016 RCV000156912.3
Uncertain significance 1 no assertion criteria provided Aug 5, 2014 RCV000157392.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEXN - - GRCh38
GRCh37
352 374

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000531383.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Apr 26, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000206633.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Likely benign
(Sep 11, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001011013.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 1CC
Familial hypertrophic cardiomyopathy 20
Allele origin: germline
Invitae
Accession: SCV001660109.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Aug 05, 2014)
no assertion criteria provided
Method: clinical testing
Primary dilated cardiomyopathy
Allele origin: germline
Blueprint Genetics
Accession: SCV000207130.1
Submitted: (Feb 02, 2015)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs727505353...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 29, 2021